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Article

Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.

Molecular genetics and metabolism - 1 Dec 2015

Appadurai Vivek, DeBarber Andrea, Chiang Pei-Wen, Patel Shailendra B, Steiner Robert D, Tyler Charles, Bonnen Penelope E

Abstract excerpt

Cerebrotendinous Xanthomatosis (CTX) is a treatable inborn error of metabolism caused by recessive variants in CYP27A1. Clinical presentation varies, but typically includes infant-onset chronic diarrhea, juvenile-onset bilateral cataracts, and later-onset tendinous xanthomas and progressive neurological dysfunction. CYP27A1 plays an essential role in side-chain oxidation of cholesterol necessary for the synthesis...

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Identifiers

PMID: 26643207
DOI: 10.1016/j.ymgme.2015.10.010
PMCID: PMC4767010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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